Incidental Mutation 'IGL00499:Tmem33'
| ID |
6424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem33
|
| Ensembl Gene |
ENSMUSG00000037720 |
| Gene Name |
transmembrane protein 33 |
| Synonyms |
2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
IGL00499
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
67417908-67448804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67441538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 196
(Y196H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037918]
[ENSMUST00000160352]
[ENSMUST00000161369]
[ENSMUST00000201979]
|
| AlphaFold |
Q9CR67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037918
AA Change: Y196H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: Y196H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
1 |
247 |
9.8e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160352
AA Change: Y196H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: Y196H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
1 |
246 |
2.8e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161369
AA Change: Y196H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: Y196H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
7 |
245 |
1.8e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201979
|
| SMART Domains |
Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0121
|
7 |
61 |
5.9e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
C |
A |
10: 70,711,138 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,215,301 (GRCm39) |
D480G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,896 (GRCm39) |
N531K |
possibly damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,122 (GRCm39) |
K542* |
probably null |
Het |
| Blk |
A |
G |
14: 63,618,169 (GRCm39) |
F246L |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,313,172 (GRCm39) |
E292G |
probably benign |
Het |
| Ccdc88a |
C |
T |
11: 29,449,341 (GRCm39) |
T261I |
probably benign |
Het |
| Cep290 |
A |
T |
10: 100,379,189 (GRCm39) |
Q57L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,484,416 (GRCm39) |
H688Q |
probably benign |
Het |
| Cryz |
T |
C |
3: 154,310,579 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,329,504 (GRCm39) |
K6858R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,168,700 (GRCm39) |
V371E |
possibly damaging |
Het |
| Eps8 |
C |
A |
6: 137,499,886 (GRCm39) |
E181* |
probably null |
Het |
| Flt4 |
T |
C |
11: 49,526,088 (GRCm39) |
I796T |
probably damaging |
Het |
| Gmps |
A |
G |
3: 63,921,788 (GRCm39) |
N597S |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,633,339 (GRCm39) |
M1011K |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,699,244 (GRCm39) |
M112T |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,032,756 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
G |
17: 67,939,034 (GRCm39) |
F182S |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,076 (GRCm38) |
M231K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,870,407 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
A |
T |
3: 66,989,933 (GRCm39) |
|
probably benign |
Het |
| Setd1b |
A |
T |
5: 123,296,810 (GRCm39) |
|
probably benign |
Het |
| Tbx6 |
A |
G |
7: 126,380,701 (GRCm39) |
Y8C |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,741,589 (GRCm39) |
D96G |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,357 (GRCm39) |
D945E |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,312,329 (GRCm39) |
I155V |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,935,560 (GRCm39) |
Y328N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,673 (GRCm39) |
D323N |
probably damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,672 (GRCm39) |
M322I |
probably damaging |
Het |
| Zfp341 |
C |
T |
2: 154,476,151 (GRCm39) |
T446I |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,877 (GRCm39) |
L412P |
probably damaging |
Het |
| Zfp521 |
T |
A |
18: 14,072,177 (GRCm39) |
D21V |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,584,233 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02076:Tmem33
|
APN |
5 |
67,443,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03106:Tmem33
|
APN |
5 |
67,421,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
commonplace
|
UTSW |
5 |
67,421,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0573:Tmem33
|
UTSW |
5 |
67,421,603 (GRCm39) |
intron |
probably benign |
|
|
R0839:Tmem33
|
UTSW |
5 |
67,421,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1129:Tmem33
|
UTSW |
5 |
67,421,803 (GRCm39) |
splice site |
probably null |
|
|
R1438:Tmem33
|
UTSW |
5 |
67,424,634 (GRCm39) |
splice site |
probably null |
|
|
R1692:Tmem33
|
UTSW |
5 |
67,425,897 (GRCm39) |
missense |
probably null |
0.57 |
|
R4513:Tmem33
|
UTSW |
5 |
67,443,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4763:Tmem33
|
UTSW |
5 |
67,443,479 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6298:Tmem33
|
UTSW |
5 |
67,425,894 (GRCm39) |
nonsense |
probably null |
|
|
R6673:Tmem33
|
UTSW |
5 |
67,443,468 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6813:Tmem33
|
UTSW |
5 |
67,421,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7186:Tmem33
|
UTSW |
5 |
67,421,130 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7378:Tmem33
|
UTSW |
5 |
67,443,476 (GRCm39) |
missense |
probably benign |
|
|
R8402:Tmem33
|
UTSW |
5 |
67,424,718 (GRCm39) |
splice site |
probably benign |
|
|
R9747:Tmem33
|
UTSW |
5 |
67,425,922 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2012-04-20 |
Incidental Mutation